Systemic disease involves (hepato)splenomegaly and a risk for liver failure in affected infants.
However, only rarely the disease spectrum has been analyzed comprehensively.
Moreover, due to the rarity of NP-C, individual studies typically miss the statistical power to allow for generalization of their respective findings.
NPC is mission oriented apex organization to promote the cause of productivity in all sectors of the Indian economy, established as autonomous, multipartite, non-profit organization by the Ministry of Industry, Govt. NPC is a constituent of the Tokyo-based Asian Productivity Organisation (APO), an Inter Governmental Body, of which the Government of India is a founder member.
The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs.
However, a distinct subcohort (n=6) with initially steadily progressing disease later showed a 2.9-fold accelerated progression that was associated with the onset of seizures (p].
Clinical features of NP-C encompass a wide spectrum of systemic, neurological and psychiatric signs.Upon disease progression, any sort of epileptic seizure may occur.Most patients develop cognitive impairment progressing to dementia. Additionally, NP-C patients may show a multitude of less frequent and less specific symptoms .This is a two-center cross-sectional analysis of patient data.Data were acquired on 42 NP-C patients resident in Germany or Switzerland that (i.) at start of the study were still alive and (ii.) had been diagnosed within the past six years and/or long-term comprehensive medical records were available. Data were assessed and evaluated by two clinical experts.The study protocol conformed to the ethical guidelines of the 1975 Declaration of Helsinki.